PMC

Complex sSMC: frequencies, shapes, origin and mosaicism. A) Schematic depictions of the three yet known complex sSMC leading to specific syndromic conditions: the Emanuel = der(22)t(11;22), the der(22)t(8;22) and the der(13 or 21)(13 or 21;18) syndrome. B) Frequency of the known three syndromes from A) and the other complex sSMC (others) depicted as a ring diagram. C) Distribution of the sSMC shapes among the reported complex sSMC cases excluding the cases with Emanuel syndrome. D) Distribution of de novo and inherited cases among complex sSMC excluding the cases with Emanuel syndrome. E) Complex sSMC tended to be mosaic only among the de novo cases.